Literature DB >> 12560153

Craniometaphyseal dysplasia: a case report and review of medical and surgical management.

William M Sheppard1, Robert J Shprintzen, Sherard A Tatum, Charles I Woods.   

Abstract

Craniometaphyseal dysplasia (CMD) is a genetic syndrome involving cranial and tubular bone anomalies that commonly present at a young age, often with otolaryngologic manifestations. In this paper, we report a rare case of a sporadic form of the disease resulting in an early state of hypocalcemia with secondary hyperparathyroidism. A conductive hearing loss is also documented prior to 12 months of age. The clinical aspects of CMD will be covered along with its pathogenesis. The current concepts surrounding medical and surgical treatments will be reviewed, and the management of our patient will be discussed.

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Year:  2003        PMID: 12560153     DOI: 10.1016/s0165-5876(02)00289-6

Source DB:  PubMed          Journal:  Int J Pediatr Otorhinolaryngol        ISSN: 0165-5876            Impact factor:   1.675


  5 in total

1.  Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.

Authors:  Allison Zajac; Seung-Hak Baek; Imad Salhab; Melissa A Radecki; Sukwha Kim; Hakon Hakonarson; Hyun-Duck Nah
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

2.  A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).

Authors:  I-Ping Chen; Liping Wang; Xi Jiang; Hector Leonardo Aguila; Ernst J Reichenberger
Journal:  Hum Mol Genet       Date:  2010-12-13       Impact factor: 6.150

3.  Cardiopulmonary arrest caused by craniometaphyseal dysplasia.

Authors:  Ayako Chida; Youichi Yanagawa; Hiroshi Matsumoto; Shigeaki Nonoyama
Journal:  Indian J Pediatr       Date:  2011-02-17       Impact factor: 1.967

4.  Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.

Authors:  I-Ping Chen; Chiachien J Wang; Sara Strecker; Boguslawa Koczon-Jaremko; Adele Boskey; Ernst J Reichenberger
Journal:  J Bone Miner Res       Date:  2009-07       Impact factor: 6.741

5.  Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis.

Authors:  Sumit Singh; Curtis Qin; Srikanth Medarametla; Shilpa V Hegde
Journal:  Radiol Case Rep       Date:  2016-05-20
  5 in total

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